{[ promptMessage ]}

Bookmark it

{[ promptMessage ]}

Chapter 10 - Nature of the Gene and Genome (Spring 2011)

Sequenced in 2004 the finished version of the human

Info icon This preview shows page 1. Sign up to view the full content.

View Full Document Right Arrow Icon
This is the end of the preview. Sign up to access the rest of the document.

Unformatted text preview: ion of the human genome was reported contains 20000 genes, alternate splicing of mRNA may account for several proteins from one gene, post-translational modifications also account for different protein functions Comparative genomics: If it is conserved, it must be important DNA that is similar among related organisms is considered to be important even when the precise role is still unclear; some important DNA in humans may have recent origin (the chimpanzee is the closest to us) The genetic basis of being a human: by focusing on conserved sequence, we can learn about traits we share with other species The gene FOXP2 in human differs very little from that in chimps, and is called the speech gene it became fixed in the human population about 120000 to 200000 years ago The gene AMY1 encodes the enzyme amylase and its frequency is remarkably different n humans and chimps (used for starch digestion) chimps have a lower starch diet compared to humans Human Genetic Variation o o o o o The genome varies among different individuals due to genetic polymorphism DNA sequence variation the most common variability among humans is at the single nucleotide difference, called single nucleotide polymorphisms (SNPs) Segments of the genome can change and these changes may involve large segments of DNA (structural variants) Recent studies indicate that intermediate sized variants are more common than previously thought Variants: gene duplication, deletion, inversion, insertion Genomic Analysis in Medicine o o o o o Until recently, the gene responsible for a disease was indentified through traditional genetic linkage studies However the low penetrance of most genes for common diseases cannot be indentified thorough family linkage studies Genome wide association studies look for links between a disease and polymorphisms located in the genome SNPs may play an important role as susceptibility to disease or act as genetic markers for susceptibility SNPs can be inherited in blocks called haplotypes haplotype maps (Hapmaps) are based on common haplotypes and they may lead to association between disease and haplotypes 5...
View Full Document

{[ snackBarMessage ]}

What students are saying

  • Left Quote Icon

    As a current student on this bumpy collegiate pathway, I stumbled upon Course Hero, where I can find study resources for nearly all my courses, get online help from tutors 24/7, and even share my old projects, papers, and lecture notes with other students.

    Student Picture

    Kiran Temple University Fox School of Business ‘17, Course Hero Intern

  • Left Quote Icon

    I cannot even describe how much Course Hero helped me this summer. It’s truly become something I can always rely on and help me. In the end, I was not only able to survive summer classes, but I was able to thrive thanks to Course Hero.

    Student Picture

    Dana University of Pennsylvania ‘17, Course Hero Intern

  • Left Quote Icon

    The ability to access any university’s resources through Course Hero proved invaluable in my case. I was behind on Tulane coursework and actually used UCLA’s materials to help me move forward and get everything together on time.

    Student Picture

    Jill Tulane University ‘16, Course Hero Intern